IL1R1 — 47 ClinVar variants
All ClinVar germline IL1R1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
1 Pathogenic · 2 Benign · 1 Benign/Likely benign · 5 Likely benign · 38 Uncertain significance
Full IL1R1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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IL1R1 p.Lys131Glu
Pathogenic
No assertion criteria
chronic recurrent multifocal osteomyelitis 3
Predictors lean, ClinVar uncertain 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- IL1R1 p.Ala20Thr Uncertain significance Single submitter
- IL1R1 p.Arg225Lys Uncertain significance Single submitter
- IL1R1 p.Arg456Lys Uncertain significance Single submitter
- IL1R1 p.Arg542Gln Uncertain significance Single submitter
- IL1R1 p.Arg543Trp Uncertain significance Single submitter
- IL1R1 p.Asn221Ser Uncertain significance Single submitter
- IL1R1 p.Asn297Asp Uncertain significance Single submitter
- IL1R1 p.Asp239Gly Uncertain significance Single submitter
- IL1R1 p.Asp481Ala Uncertain significance Single submitter
- IL1R1 p.Cys9Tyr Uncertain significance Single submitter
- IL1R1 p.Gln206Lys Uncertain significance Single submitter
- IL1R1 p.Gln245Arg Uncertain significance Single submitter
- IL1R1 p.Glu27Asp Uncertain significance Single submitter
- IL1R1 p.Glu438Asp Uncertain significance Single submitter
- IL1R1 p.Gly522Arg Uncertain significance Single submitter
- IL1R1 p.Gly53Asp Uncertain significance Single submitter
- IL1R1 p.His173Gln Uncertain significance Single submitter
- IL1R1 p.Ile320Val Uncertain significance Single submitter
- IL1R1 p.Ile339Thr Uncertain significance Single submitter
- IL1R1 p.Ile405Thr Uncertain significance Single submitter
- IL1R1 p.Ile493Val Uncertain significance Single submitter
- IL1R1 p.Leu345Ser Uncertain significance Single submitter
- IL1R1 p.Leu478Phe Uncertain significance Single submitter
- IL1R1 p.Lys287Glu Uncertain significance Single submitter
- IL1R1 p.Pro208Leu Uncertain significance Single submitter
- IL1R1 p.Ser17Thr Uncertain significance Single submitter
- IL1R1 p.Ser547Pro Uncertain significance Single submitter
- IL1R1 p.Ser62Gly Uncertain significance Single submitter
- IL1R1 p.Thr311Ile Uncertain significance Single submitter
- IL1R1 p.Thr528Ala Uncertain significance Single submitter
- IL1R1 p.Tyr431Phe Uncertain significance Single submitter
- IL1R1 p.Val183Leu Uncertain significance Single submitter
- IL1R1 p.Val3Glu Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All IL1R1 variants
Pathogenic 1
- p.Lys131Glu No assertion criteria chronic recurrent multifocal osteomyelitis 3 ⚠
Benign 2
- p.Val266= Multiple submitters
- p.Lys559fs Single submitter
Benign/Likely benign 1
- p.Asp386= Multiple submitters
Likely benign 5
- p.Arg543Gln Single submitter
- p.Cys403Ser Single submitter
- p.Ile172Val Single submitter
- p.Leu254= Single submitter
- p.Val98= Single submitter
Uncertain significance 38
- p.Ala111Glu Single submitter ⚠
- p.Ala20Thr Single submitter ⚠
- p.Arg225Lys Single submitter ⚠
- p.Arg456Lys Single submitter ⚠
- p.Arg514Cys Single submitter ⚠
- p.Arg514Leu Single submitter ⚠
- p.Arg542Gln Single submitter ⚠
- p.Arg543Trp Single submitter ⚠
- p.Asn221Ser Single submitter ⚠
- p.Asn297Asp Single submitter ⚠
- p.Asp239Gly Single submitter ⚠
- p.Asp481Ala Single submitter ⚠
- p.Cys9Tyr Single submitter ⚠
- p.Gln206Lys Single submitter ⚠
- p.Gln245Arg Single submitter ⚠
- p.Glu27Asp Single submitter ⚠
- p.Glu38Val Single submitter ⚠
- p.Glu438Asp Single submitter ⚠
- p.Gly522Arg Single submitter ⚠
- p.Gly53Asp Single submitter ⚠
- p.His173Gln Single submitter ⚠
- p.Ile320Val Single submitter ⚠
- p.Ile339Thr Single submitter ⚠
- p.Ile405Thr Single submitter ⚠
- p.Ile493Val Single submitter ⚠
- p.Leu345Ser Single submitter ⚠
- p.Leu478Phe Single submitter ⚠
- p.Lys287Glu Single submitter ⚠
- p.Pro208Leu Single submitter ⚠
- p.Ser17Thr Single submitter ⚠
- p.Ser547Pro Single submitter ⚠
- p.Ser62Gly Single submitter ⚠
- p.Thr251Ile Single submitter ⚠
- p.Thr311Ile Single submitter ⚠
- p.Thr528Ala Single submitter ⚠
- p.Tyr431Phe Single submitter ⚠
- p.Val183Leu Single submitter ⚠
- p.Val3Glu Single submitter ⚠